| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 5 | 159333192 | intron variant | TTAGAG/GC | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 109822839 | regulatory region variant | TGTAGGGGCACAGAGAGA/-;TGTAGGGGCACAGAGAGATGTAGGGGCACAGAGAGA | delins |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 9 | 99147870 | intron variant | TCTTT/- | delins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.853 | 34 | 1997 | 2017 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.806 | 31 | 2002 | 2019 | |||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.060 | 0.833 | 6 | 2008 | 2019 | |||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.040 | 1.000 | 4 | 2012 | 2014 | ||||||||
|
0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 |
|
0.030 | 1.000 | 3 | 2009 | 2014 | |||||||
|
0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2018 | 2020 | ||||||||
|
0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 |
|
0.020 | 0.500 | 2 | 2012 | 2018 | ||||||||
|
0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 50360780 | missense variant | T/G | snv | 0.67 | 0.64 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 9 | 6255881 | intron variant | T/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 13 | 72432915 | intergenic variant | T/G | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 19 | 38878729 | 3 prime UTR variant | T/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 7 | 76304395 | downstream gene variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.776 | 0.320 | 3 | 159988493 | intron variant | T/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |